January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
20 citations
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June 2010 in “Genes and Immunity” Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
6 citations
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April 2010 in “Cellular Reprogramming” Pig skin cells can turn into mesodermal cells but lose their ability to become neural cells.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.